Centre of Chronic Immunodeficiency, University Medical Center Freiburg and University of Freiburg, Freiburg, Germany.
Clin Exp Immunol. 2012 Mar;167(3):479-91. doi: 10.1111/j.1365-2249.2011.04542.x.
In order to build a common data pool and estimate the disease burden of primary immunodeficiencies (PID) in Europe, the European Society for Immunodeficiencies (ESID) has developed an internet-based database for clinical and research data on patients with PID. This database is a platform for epidemiological analyses as well as the development of new diagnostic and therapeutic strategies and the identification of novel disease-associated genes. Since its start in 2004, 13,708 patients from 41 countries have been documented in the ESID database. Common variable immunodeficiency (CVID) represents the most common entity with 2880 patients or 21% of all entries, followed by selective immunoglobulin A (sIgA) deficiency (1424 patients, 10·4%). The total documented prevalence of PID is highest in France, with five patients per 100,000 inhabitants. The highest documented prevalence for a single disease is 1·3 per 100,000 inhabitants for sIgA deficiency in Hungary. The highest reported incidence of PID per 100,000 live births was 16·2 for the period 1999-2002 in France. The highest reported incidence rate for a single disease was 6·7 for sIgA deficiency in Spain for the period 1999-2002. The genetic cause was known in 36·2% of all registered patients. Consanguinity was reported in 8·8%, and 18·5% of patients were reported to be familial cases; 27·9% of patients were diagnosed after the age of 16. We did not observe a significant decrease in the diagnostic delay for most diseases between 1987 and 2010. The most frequently reported long-term medication is immunoglobulin replacement.
为了建立一个共同的数据池并估计欧洲原发性免疫缺陷病（PID）的疾病负担，欧洲免疫缺陷学会（ESID）已经开发了一个基于互联网的数据库，用于记录 PID 患者的临床和研究数据。这个数据库是进行流行病学分析以及开发新的诊断和治疗策略以及识别新的疾病相关基因的平台。自 2004 年启动以来，已有来自 41 个国家的 13708 名患者在 ESID 数据库中记录。常见可变免疫缺陷（CVID）是最常见的疾病，有 2880 名患者或所有患者的 21%，其次是选择性免疫球蛋白 A（sIgA）缺乏症（1424 名患者，10.4%）。PID 的总记录患病率在法国最高，每 10 万人中有 5 例。单一疾病的最高记录患病率是匈牙利的 sIgA 缺乏症，每 10 万人中有 1.3 例。PID 每 10 万活产儿的最高报告发病率是 1999-2002 年期间法国的 16.2。单一疾病的最高报告发病率是西班牙的 sIgA 缺乏症，为 1999-2002 年期间的 6.7。所有登记患者中有 36.2%的病因已知。8.8%的患者报告有近亲关系，18.5%的患者为家族病例；27.9%的患者在 16 岁后被诊断。我们没有观察到 1987 年至 2010 年间大多数疾病的诊断延迟有显著减少。报告最频繁的长期药物是免疫球蛋白替代治疗。
